Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000244146 | SCV000317787 | pathogenic | Cardiovascular phenotype | 2013-04-30 | criteria provided, single submitter | clinical testing | This variant has been determined to be the result of a de novo mutation or germline mosaicism in one family tested by our laboratory (current case).This variant has not been detected in conjunction with a pathogenic mutation to date.Allele frequency data in population-based cohorts is not currently available.This amino acid position is completely conserved on sequence alignment.This alteration is predicted to be probably damaging with a score of 0.999 (sensitivity: 0.08; specificity: 1.00)This alteration is predicted to be deleterious with a score of 0.000 (conservation: 2.03) |
National Institute of Allergy and Infectious Diseases - |
RCV002251451 | SCV002522186 | pathogenic | Loeys-Dietz syndrome 2 | 2021-08-06 | criteria provided, single submitter | clinical testing |